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A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D; Epi25 Collaborative. Bundalian L, et al. Among authors: chen s. Am J Hum Genet. 2023 Jul 6;110(7):1110-1122. doi: 10.1016/j.ajhg.2023.06.004. Epub 2023 Jun 26. Am J Hum Genet. 2023. PMID: 37369202 Free PMC article.
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Among authors: chen s. Nature. 2024 May 20. doi: 10.1038/s41586-024-07556-0. Online ahead of print. Nature. 2024. PMID: 38768635
Tenecteplase versus standard of care for minor ischaemic stroke with proven occlusion (TEMPO-2): a randomised, open label, phase 3 superiority trial.
Coutts SB, Ankolekar S, Appireddy R, Arenillas JF, Assis Z, Bailey P, Barber PA, Bazan R, Buck BH, Butcher KS, Camden MC, Campbell B, Casaubon LK, Catanese L, Chatterjee K, Choi PMC, Clarke B, Dowlatshahi D, Ferrari J, Field TS, Ganesh A, Ghia D, Goyal M, Greisenegger S, Halse O, Horn M, Hunter G, Imoukhuede O, Kelly PJ, Kennedy J, Kenney C, Kleinig TJ, Krishnan K, Lima F, Mandzia JL, Marko M, Martins SO, Medvedev G, Menon BK, Mishra SM, Molina C, Moussaddy A, Muir KW, Parsons MW, Penn AMW, Pille A, Pontes-Neto OM, Roffe C, Serena J, Simister R, Singh N, Spratt N, Strbian D, Tham CH, Wiggam MI, Williams DJ, Willmot MR, Wu T, Yu AYX, Zachariah G, Zafar A, Zerna C, Hill MD; TEMPO-2 investigators. Coutts SB, et al. Lancet. 2024 May 16:S0140-6736(24)00921-8. doi: 10.1016/S0140-6736(24)00921-8. Online ahead of print. Lancet. 2024. PMID: 38768626
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